{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA116112", "communityStandardTitle": [ "NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18285[alleleid]", "alleleId": 18285, "preferredName": "NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3246", "RCV": [ "RCV000175324", "RCV002286391", "RCV003764522", "RCV003323349" ], "variationId": 3246 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-134396738-G-C", "id": "9-134396738-G-C", "variant": "9:134396738 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.134396738G>C?assembly=hg19", "id": "chr9:g.134396738G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.131521351G>C?assembly=hg38", "id": "chr9:g.131521351G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/119462986", "rs": 119462986 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-134396738-G-C?dataset=gnomad_r2_1", "id": "9-134396738-G-C", "variant": "9:134396738 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-131521351-G-C?dataset=gnomad_r4", "id": "9-131521351-G-C", "variant": "9:131521351 G / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 131521351, "referenceAllele": "G", "start": 131521350 } ], "hgvs": [ "NC_000009.12:g.131521351G>C", "CM000671.2:g.131521351G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 134396738, "referenceAllele": "G", "start": 134396737 } ], "hgvs": [ "NC_000009.11:g.134396738G>C", "CM000671.1:g.134396738G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 133386559, "referenceAllele": "G", "start": 133386558 } ], "hgvs": [ "NC_000009.10:g.133386559G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 23450, "referenceAllele": "G", "start": 23449 } ], "hgvs": [ "NG_008896.1:g.23450G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001288" }, { "coordinates": [ { "allele": "C", "end": 23450, "referenceAllele": "G", "start": 23449 } ], "hgvs": [ "NG_008896.2:g.23450G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS733319" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1761, "referenceAllele": "G", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.13:c.1542G>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Gln514His", "hgvsWellDefined": "ENSP00000343034.7:p.Gln514His" }, "referenceSequence": "http://reg.genome.network/refseq/RS824001" }, { "coordinates": [ { "allele": "C", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.7:n.2244G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS824581" }, { "coordinates": [ { "allele": "C", "end": 1761, "referenceAllele": "G", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.6:c.1761G>C" ], "proteinEffect": { "hgvs": "ENSP00000404119.2:p.Gln587His", "hgvsWellDefined": "ENSP00000404119.2:p.Gln587His" }, "referenceSequence": "http://reg.genome.network/refseq/RS824722" }, { "coordinates": [ { "allele": "C", "end": 2268, "referenceAllele": "G", "start": 2267 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.2:c.*2048G>C" ], "proteinEffect": { "hgvs": "ENSP00000504346.2:n.*2048G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS826930" }, { "coordinates": [ { "allele": "C", "end": 2794, "referenceAllele": "G", "start": 2793 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.2:c.*1887G>C" ], "proteinEffect": { "hgvs": "ENSP00000503157.2:n.*1887G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS826933" }, { "coordinates": [ { "allele": "C", "end": 2169, "referenceAllele": "G", "start": 2168 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682070.1:n.2169G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827068" }, { "coordinates": [ { "allele": "C", "end": 2108, "referenceAllele": "G", "start": 2107 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000682813.1:n.2108G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS827801" }, { "coordinates": [ { "allele": "C", "end": 4451, "referenceAllele": "G", "start": 4450 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683392.1:n.4451G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828371" }, { "coordinates": [ { "allele": "C", "end": 2109, "referenceAllele": "G", "start": 2108 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683712.1:n.2109G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828683" }, { "coordinates": [ { "allele": "C", "end": 3604, "referenceAllele": "G", "start": 3603 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000683900.1:n.3604G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828866" }, { "coordinates": [ { "allele": "C", "end": 2370, "referenceAllele": "G", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684062.1:n.2370G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829021" }, { "coordinates": [ { "allele": "C", "end": 3550, "referenceAllele": "G", "start": 3549 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684579.1:n.3550G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829531" }, { "coordinates": [ { "allele": "C", "end": 931, "referenceAllele": "G", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000684679.1:n.931G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS829630" }, { "coordinates": [ { "allele": "C", "end": 1740, "referenceAllele": "G", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.12:c.1542G>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Gln514His", "hgvsWellDefined": "ENSP00000343034.7:p.Gln514His" }, "referenceSequence": "http://reg.genome.network/refseq/RS747952" }, { "coordinates": [ { "allele": "C", "end": 842, "referenceAllele": "G", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372220.5:c.573G>C" ], "proteinEffect": { "hgvs": "ENSP00000361294.5:p.Gln191His", "hgvsWellDefined": "ENSP00000361294.5:p.Gln191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS750959" }, { "coordinates": [ { "allele": "C", "end": 2085, "referenceAllele": "G", "start": 2084 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.9:c.1770G>C" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Gln590His", "hgvsWellDefined": "ENSP00000361302.3:p.Gln590His" }, "referenceSequence": "http://reg.genome.network/refseq/RS750961" }, { "coordinates": [ { "allele": "C", "end": 1890, "referenceAllele": "G", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.8:c.1704G>C" ], "proteinEffect": { "hgvs": "ENSP00000385797.4:p.Gln568His", "hgvsWellDefined": "ENSP00000385797.4:p.Gln568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS754017", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.1704G>C" }, "RefSeq": { "hgvs": "NM_001077365.2:c.1704G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Gln568His" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Gln568His" } } } }, { "coordinates": [ { "allele": "C", "end": 2142, "referenceAllele": "G", "start": 2141 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676640.1:c.1704G>C" ], "proteinEffect": { "hgvs": "ENSP00000503281.1:p.Gln568His", "hgvsWellDefined": "ENSP00000503281.1:p.Gln568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS776317" }, { "coordinates": [ { "allele": "C", "end": 1021, "referenceAllele": "G", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676803.1:c.765G>C" ], "proteinEffect": { "hgvs": "ENSP00000503093.1:p.Gln255His", "hgvsWellDefined": "ENSP00000503093.1:p.Gln255His" }, "referenceSequence": "http://reg.genome.network/refseq/RS776475" }, { "coordinates": [ { "allele": "C", "end": 1439, "referenceAllele": "G", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000676835.1:c.*919G>C" ], "proteinEffect": { "hgvs": "ENSP00000502911.1:n.*919G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776507" }, { "coordinates": [ { "allele": "C", "end": 1482, "referenceAllele": "G", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677029.1:c.1248G>C" ], "proteinEffect": { "hgvs": "ENSP00000502936.1:p.Gln416His", "hgvsWellDefined": "ENSP00000502936.1:p.Gln416His" }, "referenceSequence": "http://reg.genome.network/refseq/RS776698" }, { "coordinates": [ { "allele": "C", "end": 1638, "referenceAllele": "G", "start": 1637 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677099.1:c.*1414G>C" ], "proteinEffect": { "hgvs": "ENSP00000504553.1:n.*1414G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776765" }, { "coordinates": [ { "allele": "C", "end": 1651, "referenceAllele": "G", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677216.1:c.1353G>C" ], "proteinEffect": { "hgvs": "ENSP00000503772.1:p.Gln451His", "hgvsWellDefined": "ENSP00000503772.1:p.Gln451His" }, "referenceSequence": "http://reg.genome.network/refseq/RS776879" }, { "coordinates": [ { "allele": "C", "end": 729, "referenceAllele": "G", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677221.1:n.729G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS776884" }, { "coordinates": [ { "allele": "C", "end": 2169, "referenceAllele": "G", "start": 2168 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677295.1:c.*1081G>C" ], "proteinEffect": { "hgvs": "ENSP00000504346.1:n.*1081G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS776958" }, { "coordinates": [ { "allele": "C", "end": 1649, "referenceAllele": "G", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677444.1:c.1649G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777106" }, { "coordinates": [ { "allele": "C", "end": 1071, "referenceAllele": "G", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677586.1:n.1071G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777245" }, { "coordinates": [ { "allele": "C", "end": 1519, "referenceAllele": "G", "start": 1518 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677626.1:c.1353G>C" ], "proteinEffect": { "hgvs": "ENSP00000503552.1:p.Gln451His", "hgvsWellDefined": "ENSP00000503552.1:p.Gln451His" }, "referenceSequence": "http://reg.genome.network/refseq/RS777284" }, { "coordinates": [ { "allele": "C", "end": 1469, "referenceAllele": "G", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000677853.1:c.*712G>C" ], "proteinEffect": { "hgvs": "ENSP00000503488.1:n.*712G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777505" }, { "coordinates": [ { "allele": "C", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678202.1:n.863G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS777851" }, { "coordinates": [ { "allele": "C", "end": 2109, "referenceAllele": "G", "start": 2108 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678264.1:c.*1081G>C" ], "proteinEffect": { "hgvs": "ENSP00000503157.1:n.*1081G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS777912" }, { "coordinates": [ { "allele": "C", "end": 1770, "referenceAllele": "G", "start": 1769 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678303.1:c.1614G>C" ], "proteinEffect": { "hgvs": "ENSP00000503696.1:p.Gln538His", "hgvsWellDefined": "ENSP00000503696.1:p.Gln538His" }, "referenceSequence": "http://reg.genome.network/refseq/RS777951" }, { "coordinates": [ { "allele": "C", "end": 2417, "referenceAllele": "G", "start": 2416 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678366.1:c.*1953G>C" ], "proteinEffect": { "hgvs": "ENSP00000504353.1:n.*1953G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778013" }, { "coordinates": [ { "allele": "C", "end": 2537, "referenceAllele": "G", "start": 2536 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678546.1:c.*1649G>C" ], "proteinEffect": { "hgvs": "ENSP00000503062.1:n.*1649G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778187" }, { "coordinates": [ { "allele": "C", "end": 2127, "referenceAllele": "G", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678548.1:c.*1776G>C" ], "proteinEffect": { "hgvs": "ENSP00000503934.1:n.*1776G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778189" }, { "coordinates": [ { "allele": "C", "end": 1540, "referenceAllele": "G", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678626.1:n.1540G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778266" }, { "coordinates": [ { "allele": "C", "end": 2316, "referenceAllele": "G", "start": 2315 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678739.1:c.*2025G>C" ], "proteinEffect": { "hgvs": "ENSP00000503806.1:n.*2025G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778378" }, { "coordinates": [ { "allele": "C", "end": 2071, "referenceAllele": "G", "start": 2070 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000678833.1:c.*1456G>C" ], "proteinEffect": { "hgvs": "ENSP00000503893.1:n.*1456G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778471" }, { "coordinates": [ { "allele": "C", "end": 1712, "referenceAllele": "G", "start": 1711 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679023.1:c.1542G>C" ], "proteinEffect": { "hgvs": "ENSP00000503718.1:p.Gln514His", "hgvsWellDefined": "ENSP00000503718.1:p.Gln514His" }, "referenceSequence": "http://reg.genome.network/refseq/RS778658" }, { "coordinates": [ { "allele": "C", "end": 1323, "referenceAllele": "G", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679076.1:c.1323G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS778711" }, { "coordinates": [ { "allele": "C", "end": 2003, "referenceAllele": "G", "start": 2002 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679111.1:c.*460G>C" ], "proteinEffect": { "hgvs": "ENSP00000504257.1:n.*460G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS778746" }, { "coordinates": [ { "allele": "C", "end": 1482, "referenceAllele": "G", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000679189.1:c.1353G>C" ], "proteinEffect": { "hgvs": "ENSP00000503356.1:p.Gln451His", "hgvsWellDefined": "ENSP00000503356.1:p.Gln451His" }, "referenceSequence": "http://reg.genome.network/refseq/RS778824" }, { "coordinates": [ { "allele": "C", "end": 1738, "referenceAllele": "G", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000341012.11:c.1542G>C" ], "proteinEffect": { "hgvs": "ENSP00000343034.7:p.Gln514His", "hgvsWellDefined": "ENSP00000343034.7:p.Gln514His" }, "referenceSequence": "http://reg.genome.network/refseq/RS261233" }, { "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "G", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372220.4:c.567G>C" ], "proteinEffect": { "hgvs": "ENSP00000361294.4:p.Gln189His", "hgvsWellDefined": "ENSP00000361294.4:p.Gln189His" }, "referenceSequence": "http://reg.genome.network/refseq/RS268983" }, { "coordinates": [ { "allele": "C", "end": 1949, "referenceAllele": "G", "start": 1948 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000372228.7:c.1770G>C" ], "proteinEffect": { "hgvs": "ENSP00000361302.3:p.Gln590His", "hgvsWellDefined": "ENSP00000361302.3:p.Gln590His" }, "referenceSequence": "http://reg.genome.network/refseq/RS268987" }, { "coordinates": [ { "allele": "C", "end": 1864, "referenceAllele": "G", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000402686.7:c.1704G>C" ], "proteinEffect": { "hgvs": "ENSP00000385797.3:p.Gln568His", "hgvsWellDefined": "ENSP00000385797.3:p.Gln568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS279592" }, { "coordinates": [ { "allele": "C", "end": 1647, "referenceAllele": "G", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000404875.6:c.1353G>C" ], "proteinEffect": { "hgvs": "ENSP00000384531.2:p.Gln451His", "hgvsWellDefined": "ENSP00000384531.2:p.Gln451His" }, "referenceSequence": "http://reg.genome.network/refseq/RS280183" }, { "coordinates": [ { "allele": "C", "end": 2146, "referenceAllele": "G", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000423007.5:c.1704G>C" ], "proteinEffect": { "hgvs": "ENSP00000404119.1:p.Gln568His", "hgvsWellDefined": "ENSP00000404119.1:p.Gln568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS287545" }, { "coordinates": [ { "allele": "C", "end": 408, "referenceAllele": "G", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000467848.1:n.408G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS310907" }, { "coordinates": [ { "allele": "C", "end": 2254, "referenceAllele": "G", "start": 2253 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000485278.5:n.2254G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS324344" }, { "coordinates": [ { "allele": "C", "end": 247, "referenceAllele": "G", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "ENST00000494883.1:n.247G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS331706" }, { "@id": "http://reg.genome.network/allele/PA2825445941", "coordinates": [ { "allele": "C", "end": 1906, "referenceAllele": "G", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.1:c.1704G>C" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Gln568His", "hgvsWellDefined": "NP_001070833.1:p.Gln568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS009962" }, { "@id": "http://reg.genome.network/allele/PA2825447120", "coordinates": [ { "allele": "C", "end": 1754, "referenceAllele": "G", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.1:c.1542G>C" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Gln514His", "hgvsWellDefined": "NP_001070834.1:p.Gln514His" }, "referenceSequence": "http://reg.genome.network/refseq/RS009963" }, { "@id": "http://reg.genome.network/allele/PA2825815876", "coordinates": [ { "allele": "C", "end": 2146, "referenceAllele": "G", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.1:c.1704G>C" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Gln568His", "hgvsWellDefined": "NP_001129585.1:p.Gln568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS012602" }, { "@id": "http://reg.genome.network/allele/PA2825816989", "coordinates": [ { "allele": "C", "end": 1647, "referenceAllele": "G", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.1:c.1353G>C" ], "proteinEffect": { "hgvs": "NP_001129586.1:p.Gln451His", "hgvsWellDefined": "NP_001129586.1:p.Gln451His" }, "referenceSequence": "http://reg.genome.network/refseq/RS012603" }, { "@id": "http://reg.genome.network/allele/PA116113", "coordinates": [ { "allele": "C", "end": 1972, "referenceAllele": "G", "start": 1971 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.3:c.1770G>C" ], "proteinEffect": { "hgvs": "NP_009102.3:p.Gln590His", "hgvsWellDefined": "NP_009102.3:p.Gln590His" }, "referenceSequence": "http://reg.genome.network/refseq/RS032102" }, { "coordinates": [ { "allele": "C", "end": 2098, "referenceAllele": "G", "start": 2097 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272156.1:c.1770G>C" ], "proteinEffect": { "hgvs": "XP_005272213.1:p.Gln590His", "hgvsWellDefined": "XP_005272213.1:p.Gln590His" }, "referenceSequence": "http://reg.genome.network/refseq/RS067159" }, { "coordinates": [ { "allele": "C", "end": 1827, "referenceAllele": "G", "start": 1826 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272158.1:c.1608G>C" ], "proteinEffect": { "hgvs": "XP_005272215.1:p.Gln536His", "hgvsWellDefined": "XP_005272215.1:p.Gln536His" }, "referenceSequence": "http://reg.genome.network/refseq/RS067160" }, { "coordinates": [ { "allele": "C", "end": 1717, "referenceAllele": "G", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272159.1:c.1419G>C" ], "proteinEffect": { "hgvs": "XP_005272216.1:p.Gln473His", "hgvsWellDefined": "XP_005272216.1:p.Gln473His" }, "referenceSequence": "http://reg.genome.network/refseq/RS067161" }, { "coordinates": [ { "allele": "C", "end": 2102, "referenceAllele": "G", "start": 2101 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.1:c.573G>C" ], "proteinEffect": { "hgvs": "XP_005272219.1:p.Gln191His", "hgvsWellDefined": "XP_005272219.1:p.Gln191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS067162" }, { "coordinates": [ { "allele": "C", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.1:c.1419G>C" ], "proteinEffect": { "hgvs": "XP_006716995.1:p.Gln473His", "hgvsWellDefined": "XP_006716995.1:p.Gln473His" }, "referenceSequence": "http://reg.genome.network/refseq/RS071906" }, { "coordinates": [ { "allele": "C", "end": 1825, "referenceAllele": "G", "start": 1824 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.1:c.1623G>C" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Gln541His", "hgvsWellDefined": "XP_011516442.1:p.Gln541His" }, "referenceSequence": "http://reg.genome.network/refseq/RS085316" }, { "coordinates": [ { "allele": "C", "end": 1759, "referenceAllele": "G", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.1:c.1557G>C" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Gln519His", "hgvsWellDefined": "XP_011516443.1:p.Gln519His" }, "referenceSequence": "http://reg.genome.network/refseq/RS085317" }, { "coordinates": [ { "allele": "C", "end": 1627, "referenceAllele": "G", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.1:c.1461G>C" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Gln487His", "hgvsWellDefined": "XP_011516444.1:p.Gln487His" }, "referenceSequence": "http://reg.genome.network/refseq/RS085318" }, { "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "G", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.1:c.1455G>C" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Gln485His", "hgvsWellDefined": "XP_011516445.1:p.Gln485His" }, "referenceSequence": "http://reg.genome.network/refseq/RS085319" }, { "coordinates": [ { "allele": "C", "end": 1493, "referenceAllele": "G", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.1:c.1314G>C" ], "proteinEffect": { "hgvs": "XP_011516447.1:p.Gln438His", "hgvsWellDefined": "XP_011516447.1:p.Gln438His" }, "referenceSequence": "http://reg.genome.network/refseq/RS085321" }, { "coordinates": [ { "allele": "C", "end": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518147.1:c.642G>C" ], "proteinEffect": { "hgvs": "XP_011516449.1:p.Gln214His", "hgvsWellDefined": "XP_011516449.1:p.Gln214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS085323" }, { "coordinates": [ { "allele": "C", "end": 1946, "referenceAllele": "G", "start": 1945 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_929703.1:n.1946G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125832" }, { "coordinates": [ { "allele": "C", "end": 2212, "referenceAllele": "G", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.1:c.1770G>C" ], "proteinEffect": { "hgvs": "NP_001340122.1:p.Gln590His", "hgvsWellDefined": "NP_001340122.1:p.Gln590His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521539" }, { "@id": "http://reg.genome.network/allele/PA2827713820", "coordinates": [ { "allele": "C", "end": 1994, "referenceAllele": "G", "start": 1993 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.1:c.1542G>C" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Gln514His", "hgvsWellDefined": "NP_001340123.1:p.Gln514His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521540" }, { "@id": "http://reg.genome.network/allele/PA2827714351", "coordinates": [ { "allele": "C", "end": 1799, "referenceAllele": "G", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.1:c.1353G>C" ], "proteinEffect": { "hgvs": "NP_001340124.1:p.Gln451His", "hgvsWellDefined": "NP_001340124.1:p.Gln451His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521541" }, { "@id": "http://reg.genome.network/allele/PA2827714925", "coordinates": [ { "allele": "C", "end": 1816, "referenceAllele": "G", "start": 1815 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.1:c.1614G>C" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Gln538His", "hgvsWellDefined": "NP_001340125.1:p.Gln538His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521542" }, { "coordinates": [ { "allele": "C", "end": 1820, "referenceAllele": "G", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.1:c.1608G>C" ], "proteinEffect": { "hgvs": "NP_001340126.1:p.Gln536His", "hgvsWellDefined": "NP_001340126.1:p.Gln536His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521543" }, { "coordinates": [ { "allele": "C", "end": 2521, "referenceAllele": "G", "start": 2520 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.1:c.1608G>C" ], "proteinEffect": { "hgvs": "NP_001340127.1:p.Gln536His", "hgvsWellDefined": "NP_001340127.1:p.Gln536His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521544" }, { "coordinates": [ { "allele": "C", "end": 1713, "referenceAllele": "G", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.1:c.1419G>C" ], "proteinEffect": { "hgvs": "NP_001340128.1:p.Gln473His", "hgvsWellDefined": "NP_001340128.1:p.Gln473His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521545" }, { "@id": "http://reg.genome.network/allele/PA2827717148", "coordinates": [ { "allele": "C", "end": 1500, "referenceAllele": "G", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.1:c.1248G>C" ], "proteinEffect": { "hgvs": "NP_001340129.1:p.Gln416His", "hgvsWellDefined": "NP_001340129.1:p.Gln416His" }, "referenceSequence": "http://reg.genome.network/refseq/RS521546" }, { "coordinates": [ { "allele": "C", "end": 1754, "referenceAllele": "G", "start": 1753 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.1:n.1754G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531129" }, { "coordinates": [ { "allele": "C", "end": 1972, "referenceAllele": "G", "start": 1971 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.1:n.1972G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531130" }, { "coordinates": [ { "allele": "C", "end": 1893, "referenceAllele": "G", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.1:n.1893G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531131" }, { "coordinates": [ { "allele": "C", "end": 1647, "referenceAllele": "G", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.1:n.1647G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531132" }, { "coordinates": [ { "allele": "C", "end": 2045, "referenceAllele": "G", "start": 2044 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.1:n.2045G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531133" }, { "coordinates": [ { "allele": "C", "end": 1679, "referenceAllele": "G", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.1:n.1679G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531134" }, { "coordinates": [ { "allele": "C", "end": 1804, "referenceAllele": "G", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.1:n.1804G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531135" }, { "coordinates": [ { "allele": "C", "end": 1759, "referenceAllele": "G", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.1:n.1759G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531136" }, { "coordinates": [ { "allele": "C", "end": 2285, "referenceAllele": "G", "start": 2284 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.1:n.2285G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531137" }, { "coordinates": [ { "allele": "C", "end": 1884, "referenceAllele": "G", "start": 1883 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.1:n.1884G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531138" }, { "coordinates": [ { "allele": "C", "end": 2140, "referenceAllele": "G", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_005272162.3:c.573G>C" ], "proteinEffect": { "hgvs": "XP_005272219.1:p.Gln191His", "hgvsWellDefined": "XP_005272219.1:p.Gln191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS537254" }, { "coordinates": [ { "allele": "C", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_006716932.2:c.1419G>C" ], "proteinEffect": { "hgvs": "XP_006716995.1:p.Gln473His", "hgvsWellDefined": "XP_006716995.1:p.Gln473His" }, "referenceSequence": "http://reg.genome.network/refseq/RS539284" }, { "coordinates": [ { "allele": "C", "end": 1825, "referenceAllele": "G", "start": 1824 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518140.2:c.1623G>C" ], "proteinEffect": { "hgvs": "XP_011516442.1:p.Gln541His", "hgvsWellDefined": "XP_011516442.1:p.Gln541His" }, "referenceSequence": "http://reg.genome.network/refseq/RS544786" }, { "coordinates": [ { "allele": "C", "end": 1759, "referenceAllele": "G", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518141.2:c.1557G>C" ], "proteinEffect": { "hgvs": "XP_011516443.1:p.Gln519His", "hgvsWellDefined": "XP_011516443.1:p.Gln519His" }, "referenceSequence": "http://reg.genome.network/refseq/RS544787" }, { "coordinates": [ { "allele": "C", "end": 1627, "referenceAllele": "G", "start": 1626 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518142.2:c.1461G>C" ], "proteinEffect": { "hgvs": "XP_011516444.1:p.Gln487His", "hgvsWellDefined": "XP_011516444.1:p.Gln487His" }, "referenceSequence": "http://reg.genome.network/refseq/RS544788" }, { "coordinates": [ { "allele": "C", "end": 1657, "referenceAllele": "G", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518143.2:c.1455G>C" ], "proteinEffect": { "hgvs": "XP_011516445.1:p.Gln485His", "hgvsWellDefined": "XP_011516445.1:p.Gln485His" }, "referenceSequence": "http://reg.genome.network/refseq/RS544789" }, { "coordinates": [ { "allele": "C", "end": 1493, "referenceAllele": "G", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_011518145.2:c.1314G>C" ], "proteinEffect": { "hgvs": "XP_011516447.1:p.Gln438His", "hgvsWellDefined": "XP_011516447.1:p.Gln438His" }, "referenceSequence": "http://reg.genome.network/refseq/RS544790" }, { "coordinates": [ { "allele": "C", "end": 1899, "referenceAllele": "G", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_017014205.2:c.573G>C" ], "proteinEffect": { "hgvs": "XP_016869694.1:p.Gln191His", "hgvsWellDefined": "XP_016869694.1:p.Gln191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS567232" }, { "coordinates": [ { "allele": "C", "end": 1482, "referenceAllele": "G", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447380.1:c.573G>C" ], "proteinEffect": { "hgvs": "XP_024303148.1:p.Gln191His", "hgvsWellDefined": "XP_024303148.1:p.Gln191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580963" }, { "coordinates": [ { "allele": "C", "end": 1975, "referenceAllele": "G", "start": 1974 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447381.1:c.879G>C" ], "proteinEffect": { "hgvs": "XP_024303149.1:p.Gln293His", "hgvsWellDefined": "XP_024303149.1:p.Gln293His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580964" }, { "coordinates": [ { "allele": "C", "end": 3538, "referenceAllele": "G", "start": 3537 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XM_024447382.1:c.573G>C" ], "proteinEffect": { "hgvs": "XP_024303150.1:p.Gln191His", "hgvsWellDefined": "XP_024303150.1:p.Gln191His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580965" }, { "coordinates": [ { "allele": "C", "end": 1874, "referenceAllele": "G", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746160.2:n.1874G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594520" }, { "coordinates": [ { "allele": "C", "end": 2079, "referenceAllele": "G", "start": 2078 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746162.2:n.2079G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594521" }, { "coordinates": [ { "allele": "C", "end": 1796, "referenceAllele": "G", "start": 1795 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746164.1:n.1796G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594522" }, { "coordinates": [ { "allele": "C", "end": 2091, "referenceAllele": "G", "start": 2090 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "XR_001746166.2:n.2091G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594523" }, { "@id": "http://reg.genome.network/allele/PA2825445941", "coordinates": [ { "allele": "C", "end": 1890, "referenceAllele": "G", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077365.2:c.1704G>C" ], "proteinEffect": { "hgvs": "NP_001070833.1:p.Gln568His", "hgvsWellDefined": "NP_001070833.1:p.Gln568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676149", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000402686.8:c.1704G>C" }, "RefSeq": { "hgvs": "NM_001077365.2:c.1704G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385797.4:p.Gln568His" }, "RefSeq": { "hgvs": "NP_001070833.1:p.Gln568His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825447120", "coordinates": [ { "allele": "C", "end": 1738, "referenceAllele": "G", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001077366.2:c.1542G>C" ], "proteinEffect": { "hgvs": "NP_001070834.1:p.Gln514His", "hgvsWellDefined": "NP_001070834.1:p.Gln514His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676150" }, { "@id": "http://reg.genome.network/allele/PA2825815876", "coordinates": [ { "allele": "C", "end": 2130, "referenceAllele": "G", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136113.2:c.1704G>C" ], "proteinEffect": { "hgvs": "NP_001129585.1:p.Gln568His", "hgvsWellDefined": "NP_001129585.1:p.Gln568His" }, "referenceSequence": "http://reg.genome.network/refseq/RS677395" }, { "@id": "http://reg.genome.network/allele/PA2825816989", "coordinates": [ { "allele": "C", "end": 1631, "referenceAllele": "G", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001136114.2:c.1353G>C" ], "proteinEffect": { "hgvs": "NP_001129586.1:p.Gln451His", "hgvsWellDefined": "NP_001129586.1:p.Gln451His" }, "referenceSequence": "http://reg.genome.network/refseq/RS677396" }, { "@id": "http://reg.genome.network/allele/PA2827713241", "coordinates": [ { "allele": "C", "end": 2196, "referenceAllele": "G", "start": 2195 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353193.2:c.1770G>C" ], "proteinEffect": { "hgvs": "NP_001340122.2:p.Gln590His", "hgvsWellDefined": "NP_001340122.2:p.Gln590His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689628" }, { "@id": "http://reg.genome.network/allele/PA2827713820", "coordinates": [ { "allele": "C", "end": 1978, "referenceAllele": "G", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353194.2:c.1542G>C" ], "proteinEffect": { "hgvs": "NP_001340123.1:p.Gln514His", "hgvsWellDefined": "NP_001340123.1:p.Gln514His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689629" }, { "@id": "http://reg.genome.network/allele/PA2827714351", "coordinates": [ { "allele": "C", "end": 1783, "referenceAllele": "G", "start": 1782 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353195.2:c.1353G>C" ], "proteinEffect": { "hgvs": "NP_001340124.1:p.Gln451His", "hgvsWellDefined": "NP_001340124.1:p.Gln451His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689630" }, { "@id": "http://reg.genome.network/allele/PA2827714925", "coordinates": [ { "allele": "C", "end": 1800, "referenceAllele": "G", "start": 1799 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353196.2:c.1614G>C" ], "proteinEffect": { "hgvs": "NP_001340125.1:p.Gln538His", "hgvsWellDefined": "NP_001340125.1:p.Gln538His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689631" }, { "@id": "http://reg.genome.network/allele/PA2827715525", "coordinates": [ { "allele": "C", "end": 1804, "referenceAllele": "G", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353197.2:c.1608G>C" ], "proteinEffect": { "hgvs": "NP_001340126.2:p.Gln536His", "hgvsWellDefined": "NP_001340126.2:p.Gln536His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689632" }, { "@id": "http://reg.genome.network/allele/PA2827716115", "coordinates": [ { "allele": "C", "end": 2505, "referenceAllele": "G", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353198.2:c.1608G>C" ], "proteinEffect": { "hgvs": "NP_001340127.2:p.Gln536His", "hgvsWellDefined": "NP_001340127.2:p.Gln536His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689633" }, { "@id": "http://reg.genome.network/allele/PA2827716656", "coordinates": [ { "allele": "C", "end": 1697, "referenceAllele": "G", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353199.2:c.1419G>C" ], "proteinEffect": { "hgvs": "NP_001340128.2:p.Gln473His", "hgvsWellDefined": "NP_001340128.2:p.Gln473His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689634" }, { "@id": "http://reg.genome.network/allele/PA2827717148", "coordinates": [ { "allele": "C", "end": 1484, "referenceAllele": "G", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001353200.2:c.1248G>C" ], "proteinEffect": { "hgvs": "NP_001340129.1:p.Gln416His", "hgvsWellDefined": "NP_001340129.1:p.Gln416His" }, "referenceSequence": "http://reg.genome.network/refseq/RS689635" }, { "@id": "http://reg.genome.network/allele/PA2828535977", "coordinates": [ { "allele": "C", "end": 1888, "referenceAllele": "G", "start": 1887 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374689.1:c.1692G>C" ], "proteinEffect": { "hgvs": "NP_001361618.1:p.Gln564His", "hgvsWellDefined": "NP_001361618.1:p.Gln564His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693346" }, { "@id": "http://reg.genome.network/allele/PA2828536512", "coordinates": [ { "allele": "C", "end": 1671, "referenceAllele": "G", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374690.1:c.1485G>C" ], "proteinEffect": { "hgvs": "NP_001361619.1:p.Gln495His", "hgvsWellDefined": "NP_001361619.1:p.Gln495His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693347" }, { "@id": "http://reg.genome.network/allele/PA2828537043", "coordinates": [ { "allele": "C", "end": 1820, "referenceAllele": "G", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374691.1:c.1353G>C" ], "proteinEffect": { "hgvs": "NP_001361620.1:p.Gln451His", "hgvsWellDefined": "NP_001361620.1:p.Gln451His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693348" }, { "@id": "http://reg.genome.network/allele/PA2828537544", "coordinates": [ { "allele": "C", "end": 1732, "referenceAllele": "G", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374692.1:c.1353G>C" ], "proteinEffect": { "hgvs": "NP_001361621.1:p.Gln451His", "hgvsWellDefined": "NP_001361621.1:p.Gln451His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693349" }, { "@id": "http://reg.genome.network/allele/PA2828538048", "coordinates": [ { "allele": "C", "end": 1549, "referenceAllele": "G", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374693.1:c.1353G>C" ], "proteinEffect": { "hgvs": "NP_001361622.1:p.Gln451His", "hgvsWellDefined": "NP_001361622.1:p.Gln451His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693350" }, { "@id": "http://reg.genome.network/allele/PA2828538549", "coordinates": [ { "allele": "C", "end": 1651, "referenceAllele": "G", "start": 1650 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_001374695.1:c.1314G>C" ], "proteinEffect": { "hgvs": "NP_001361624.1:p.Gln438His", "hgvsWellDefined": "NP_001361624.1:p.Gln438His" }, "referenceSequence": "http://reg.genome.network/refseq/RS693351" }, { "@id": "http://reg.genome.network/allele/PA2829695066", "coordinates": [ { "allele": "C", "end": 1956, "referenceAllele": "G", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NM_007171.4:c.1770G>C" ], "proteinEffect": { "hgvs": "NP_009102.4:p.Gln590His", "hgvsWellDefined": "NP_009102.4:p.Gln590His" }, "referenceSequence": "http://reg.genome.network/refseq/RS696926" }, { "coordinates": [ { "allele": "C", "end": 1738, "referenceAllele": "G", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148391.2:n.1738G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704727" }, { "coordinates": [ { "allele": "C", "end": 1956, "referenceAllele": "G", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148392.2:n.1956G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704728" }, { "coordinates": [ { "allele": "C", "end": 1877, "referenceAllele": "G", "start": 1876 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148393.2:n.1877G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704729" }, { "coordinates": [ { "allele": "C", "end": 1631, "referenceAllele": "G", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148394.2:n.1631G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704730" }, { "coordinates": [ { "allele": "C", "end": 2029, "referenceAllele": "G", "start": 2028 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148395.2:n.2029G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704731" }, { "coordinates": [ { "allele": "C", "end": 1663, "referenceAllele": "G", "start": 1662 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148396.2:n.1663G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704732" }, { "coordinates": [ { "allele": "C", "end": 1788, "referenceAllele": "G", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148397.2:n.1788G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704733" }, { "coordinates": [ { "allele": "C", "end": 1743, "referenceAllele": "G", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148398.2:n.1743G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704734" }, { "coordinates": [ { "allele": "C", "end": 2269, "referenceAllele": "G", "start": 2268 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148399.2:n.2269G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704735" }, { "coordinates": [ { "allele": "C", "end": 1868, "referenceAllele": "G", "start": 1867 } ], "gene": "http://reg.genome.network/gene/GN009202", "geneNCBI_id": 10585, "geneSymbol": "POMT1", "hgvs": [ "NR_148400.2:n.1868G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704736" } ], "type": "nucleotide" }